Genomics England
GMS Panels
Panels
Genes and Entities

MAB21L1

mab-21 like 1
OMIM: 601280
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebello-Oculo-Facio-Genital syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Cerebellar hypoplasia, Abnormality of the eye, Abnormality of the genital system, No OMIM number